Incidental Mutation 'IGL03035:Emcn'
ID408637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emcn
Ensembl Gene ENSMUSG00000054690
Gene Nameendomucin
Synonyms0610012K22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03035
Quality Score
Status
Chromosome3
Chromosomal Location137341067-137432185 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 137372851 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119475] [ENSMUST00000122064] [ENSMUST00000197511]
Predicted Effect probably null
Transcript: ENSMUST00000119475
SMART Domains Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 248 5.2e-135 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122064
SMART Domains Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 261 4e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128985
Predicted Effect probably null
Transcript: ENSMUST00000197511
SMART Domains Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690

DomainStartEndE-ValueType
Pfam:Endomucin 1 92 1.3e-38 PFAM
Pfam:Endomucin 89 219 4.8e-80 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Ccdc6 T A 10: 70,182,176 S334T probably benign Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Ell2 T A 13: 75,763,648 L351* probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gm13212 C A 4: 145,622,232 Q80K possibly damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Vps36 A G 8: 22,218,415 K362E probably benign Het
Other mutations in Emcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Emcn APN 3 137379877 missense probably benign 0.11
IGL02250:Emcn APN 3 137418986 splice site probably benign
R0101:Emcn UTSW 3 137341240 start codon destroyed possibly damaging 0.51
R0180:Emcn UTSW 3 137418994 critical splice acceptor site probably null
R0329:Emcn UTSW 3 137416814 splice site probably benign
R0348:Emcn UTSW 3 137372847 nonsense probably null
R1475:Emcn UTSW 3 137379907 missense possibly damaging 0.92
R2224:Emcn UTSW 3 137404017 missense possibly damaging 0.93
R2226:Emcn UTSW 3 137404017 missense possibly damaging 0.93
R2227:Emcn UTSW 3 137404017 missense possibly damaging 0.93
R2471:Emcn UTSW 3 137404011 missense probably damaging 1.00
R4057:Emcn UTSW 3 137379899 missense probably damaging 0.98
R4456:Emcn UTSW 3 137379847 nonsense probably null
R4823:Emcn UTSW 3 137423426 missense probably damaging 1.00
R5043:Emcn UTSW 3 137391601 missense possibly damaging 0.95
R5326:Emcn UTSW 3 137379877 missense probably benign 0.11
R5542:Emcn UTSW 3 137379877 missense probably benign 0.11
R6925:Emcn UTSW 3 137419002 missense probably damaging 0.99
R7137:Emcn UTSW 3 137403991 missense probably damaging 0.98
R7148:Emcn UTSW 3 137417094 missense possibly damaging 0.95
R7265:Emcn UTSW 3 137417078 missense probably damaging 0.97
R7265:Emcn UTSW 3 137419076 missense probably damaging 0.99
Posted On2016-08-02